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Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population

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  • Zheng Li

    (Medical School, Hangzhou Normal University, Hangzhou 310000, China
    These authors contributed equally to this work.)

  • Tianyu Zhao

    (Medical School, Hangzhou Normal University, Hangzhou 310000, China
    Medical School, Shihezi University, Shihezi 832000, China
    These authors contributed equally to this work.)

  • Xiaohua Tan

    (Medical School, Hangzhou Normal University, Hangzhou 310000, China)

  • Song Lei

    (Medical School, Hangzhou Normal University, Hangzhou 310000, China
    Medical School, Shihezi University, Shihezi 832000, China)

  • Liu Huang

    (Medical School, Hangzhou Normal University, Hangzhou 310000, China)

  • Lei Yang

    (Medical School, Hangzhou Normal University, Hangzhou 310000, China)

Abstract

Unfavorable serum lipid levels are the most important risk factors for coronary artery disease (CAD), cerebral infarction, and other cardiovascular and cerebrovascular diseases. This study included 2323 Han Chinese in southern China. We collected medical reports, lifestyle details, and blood samples of individuals and used the polymerase chain reaction-ligase detection reaction method to genotype single-nucleotide polymorphisms (SNPs). Two SNPs showed a strong evidence of association with total cholesterol (TC): rs1003723 and rs6413504 in the low-density lipoproteins receptor ( LDLR ). Two SNPs in LDLR showed a strong evidence of association with low-density lipoprotein cholesterol (LDL-C), rs1003723 and rs6413504. Two SNPs showed a strong evidence of association with triglycerides (TG), namely, rs662145 in pro-protein convertase subtilisin-kexin type 9 ( PCSK9) and rs11643718 in the solute carrier family 12 member 3 ( SLC12A3) . For the TC, LDL-C, and TG levels, these SNPs generated strong combined effects on these lipid levels. For each additional dangerous gene, TC increased by 0.085 mmol/L ( p = 7.00 × 10 −6 ), and LDL-C increased by 0.075 mmol/L ( p = 9.00 × 10 −6 ). The TG increased by 0.096 mmol/L ( p = 2.90 × 10 −5 ). Compared with those bearing no risk alleles, the risk of hypertriglyceridemia, hypercholesterolemia, and dyslipidemia increased in those with two or more risk alleles and one risk gene. Polymorphisms of PCSK9 , LDLR , and SLC12A3 were associated with the plasma lipid levels in people in southern China. These results provide a theoretical basis for gene screening and the prevention of dyslipidemia.

Suggested Citation

  • Zheng Li & Tianyu Zhao & Xiaohua Tan & Song Lei & Liu Huang & Lei Yang, 2019. "Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population," IJERPH, MDPI, vol. 16(17), pages 1-11, September.
  • Handle: RePEc:gam:jijerp:v:16:y:2019:i:17:p:3207-:d:263404
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    1. Say-Hean Lye & Jagdish Kaur Chahil & Pramod Bagali & Livy Alex & Jamunarani Vadivelu & Wan Azman Wan Ahmad & Siew-Pheng Chan & Meow-Keong Thong & Shamsul Mohd Zain & Rosmawati Mohamed, 2013. "Genetic Polymorphisms in LDLR, APOB, PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia," PLOS ONE, Public Library of Science, vol. 8(4), pages 1-8, April.
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      Keywords

      PCSK9 ; LDLR ; SLC12A3 ; plasma lipid levels; dyslipidemia;
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